Tuberous sclerosis diagnostic criteria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]


There are no pathognomonic clinical signs for tuberous sclerosis. Many signs are present in individuals who are healthy (although rarely), or who have another disease. A combination of signs, classified as major or minor, is required in order to establish a clinical diagnosis.

Diagnostic Criteria

Diagnosis is made according to the following criteria:

  • Definite – Either two major features or one major feature plus two minor features.
  • Probable – One major plus one minor feature.
  • Suspect – Either one major feature or two or more minor features.

Updated diagnostic criteria for tuberous sclerosis complex 2012[1]
Major Features Minor Features
Hypomelanotic macules (> or more at least 5mm diameter) "Confetti" skin lesions
Angiofibromas (>3 or more) or fibrous cephalic plaque Dental enamel pits (>3)
Ungual fibromas (>2 or more) Intraoral fibromas (>2 or more)
Shagreen patch Retinal achromic patch
Multiple retinal hamartomas Multiple renal cysts
Cortical dysplasias** Nonrenal hamartomas
Subependymal nodules
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma
Angiomyolipomas (>2 or more)
  • * A combination of the two major clinical features (lymphangioleiomyomatosis and angiomyolipomas) without other features does not meet criteria for a definite diagnosis.
  • **Includes tubers and cerebral white matter radial migration lines.

Genetic testing

  • TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing.[1]


  1. 1.0 1.1 Northrup, Hope, et al. "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." Pediatric neurology 49.4 (2013): 243-254.